Canonical Allele Identifier: PA1139698377
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 917378
ClinVar RCV Id: RCV001174322 RCV001873638
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001302420.1:p.Lys204Asn
CA343344817
NM_001315491.2:c.612G>T
CA343344820
NM_001315491.2:c.612G>C